An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene

DOI Web Site PubMed 2 Citations 8 References
  • Kamiyama Tsutomu
    Department of Neurology, The Jikei University School of Medicine
  • Sengoku Renpei
    Department of Neurology, The Jikei University School of Medicine
  • Sasaki Masayuki
    Department of Neurology, The Jikei University School of Medicine
  • Hayashi Yukiko
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
  • Nishino Ichizo
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
  • Mochio Soichiro
    Depertment of Nursing, The Jikei University School of Medicine
  • Iguchi Yasuyuki
    Department of Neurology, The Jikei University School of Medicine

Bibliographic Information

Other Title
  • 認知症を併発したvalosin-containing protein遺伝子の新規変異によるミオパチーの進行例
  • ニンチショウ オ ヘイハツ シタ valosin-containing protein イデンシ ノ シンキ ヘンイ ニ ヨル ミオパチー ノ シンコウレイ

Search this article

Abstract

We report a 51-year-old man with myopathy and dementia probably caused by a novel mutation of the valosin-containing protein (VCP) gene, in the form of a p.Ala439Pro substitution. At 43 years old, he presented at least 2-year history of weakness of right ankle dorsiflexion. Findings from muscle biopsy suggested distal myopathy with rimmed vacuoles. However, no mutation in the GNE gene was identified. He complained of giving way of the knee, and muscle imaging study showed adipose tissue infiltration in the quadriceps. Ten years later, he was confined to a wheelchair and became reticent and antisocial with slightly impaired memory. A muscle CT revealed atrophy or replacement by adipose tissue in the muscles of neck, trunks and extremities muscles with laterality and variation of the degree. The magnetic resonance imaging of the brain showed bilateral frontal and temporal lobe atrophy with left dominance. Findings were compatible with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 53 (6), 465-469, 2013

    Societas Neurologica Japonica

Citations (2)*help

See more

References(8)*help

See more

Keywords

Details 詳細情報について

Report a problem

Back to top